A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5541643



Internal ID316220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44860913..44860968hg38UCSC Ensembl
chr22:45256793..45256848hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729435
Samples
Known GenesARHGAP8, PRR5-ARHGAP8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5541643
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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